Incidental Mutation 'R4714:Frmpd1'
ID |
353426 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Frmpd1
|
Ensembl Gene |
ENSMUSG00000035615 |
Gene Name |
FERM and PDZ domain containing 1 |
Synonyms |
|
MMRRC Submission |
041956-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4714 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
45184875-45285936 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45284785 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 1202
(Q1202R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103434
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044773]
[ENSMUST00000107804]
|
AlphaFold |
A2AKB4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044773
AA Change: Q1202R
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000047232 Gene: ENSMUSG00000035615 AA Change: Q1202R
Domain | Start | End | E-Value | Type |
PDZ
|
67 |
135 |
5.72e-10 |
SMART |
B41
|
177 |
401 |
4.85e-30 |
SMART |
low complexity region
|
523 |
537 |
N/A |
INTRINSIC |
low complexity region
|
578 |
597 |
N/A |
INTRINSIC |
PDB:4G2V|B
|
901 |
938 |
2e-15 |
PDB |
low complexity region
|
962 |
980 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1030 |
N/A |
INTRINSIC |
low complexity region
|
1115 |
1130 |
N/A |
INTRINSIC |
Blast:B41
|
1264 |
1488 |
3e-44 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107804
AA Change: Q1202R
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000103434 Gene: ENSMUSG00000035615 AA Change: Q1202R
Domain | Start | End | E-Value | Type |
PDZ
|
67 |
135 |
5.72e-10 |
SMART |
B41
|
177 |
401 |
4.85e-30 |
SMART |
low complexity region
|
523 |
537 |
N/A |
INTRINSIC |
low complexity region
|
578 |
597 |
N/A |
INTRINSIC |
PDB:4G2V|B
|
901 |
938 |
2e-15 |
PDB |
low complexity region
|
962 |
980 |
N/A |
INTRINSIC |
low complexity region
|
1019 |
1030 |
N/A |
INTRINSIC |
low complexity region
|
1115 |
1130 |
N/A |
INTRINSIC |
Blast:B41
|
1264 |
1488 |
3e-44 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
4930486L24Rik |
A |
G |
13: 60,992,132 (GRCm39) |
V298A |
probably damaging |
Het |
Abca12 |
A |
G |
1: 71,360,609 (GRCm39) |
V534A |
probably benign |
Het |
Abcb4 |
A |
G |
5: 8,980,906 (GRCm39) |
|
probably null |
Het |
Adam30 |
A |
T |
3: 98,070,170 (GRCm39) |
S668C |
probably damaging |
Het |
Ap1g1 |
T |
A |
8: 110,556,252 (GRCm39) |
V196D |
probably damaging |
Het |
Atp11b |
G |
A |
3: 35,888,543 (GRCm39) |
V738I |
probably benign |
Het |
Cast |
C |
T |
13: 74,946,834 (GRCm39) |
V27I |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,651,780 (GRCm39) |
I3090T |
probably benign |
Het |
Cgn |
C |
A |
3: 94,686,748 (GRCm39) |
G185W |
probably damaging |
Het |
Champ1 |
T |
C |
8: 13,928,063 (GRCm39) |
Y74H |
probably damaging |
Het |
Cpm |
T |
C |
10: 117,511,890 (GRCm39) |
I278T |
probably damaging |
Het |
Dcaf15 |
T |
C |
8: 84,828,845 (GRCm39) |
T141A |
probably benign |
Het |
Dcun1d1 |
C |
T |
3: 35,949,819 (GRCm39) |
V244M |
probably damaging |
Het |
Defb8 |
A |
G |
8: 19,497,575 (GRCm39) |
L12P |
probably damaging |
Het |
Dlg1 |
A |
T |
16: 31,609,079 (GRCm39) |
I225F |
probably damaging |
Het |
Dync2h1 |
G |
T |
9: 7,118,932 (GRCm39) |
H2178N |
possibly damaging |
Het |
Enam |
A |
G |
5: 88,651,395 (GRCm39) |
E893G |
probably damaging |
Het |
Flt4 |
T |
A |
11: 49,518,034 (GRCm39) |
L358Q |
probably damaging |
Het |
Ghr |
T |
A |
15: 3,349,879 (GRCm39) |
D433V |
possibly damaging |
Het |
Grm7 |
G |
A |
6: 111,057,383 (GRCm39) |
D328N |
possibly damaging |
Het |
Haus4 |
T |
C |
14: 54,779,577 (GRCm39) |
D349G |
probably benign |
Het |
Helz |
T |
C |
11: 107,517,542 (GRCm39) |
|
probably null |
Het |
Hif3a |
A |
G |
7: 16,790,196 (GRCm39) |
L69P |
probably damaging |
Het |
Ifit1 |
A |
G |
19: 34,625,563 (GRCm39) |
E233G |
probably damaging |
Het |
Kcnc2 |
T |
C |
10: 112,291,733 (GRCm39) |
F307S |
possibly damaging |
Het |
Lrp1b |
A |
T |
2: 41,000,771 (GRCm39) |
V2151E |
possibly damaging |
Het |
Lrp5 |
T |
C |
19: 3,709,454 (GRCm39) |
N92S |
probably damaging |
Het |
Metrnl |
C |
T |
11: 121,606,839 (GRCm39) |
A216V |
probably damaging |
Het |
Msh2 |
A |
G |
17: 88,026,217 (GRCm39) |
T732A |
probably damaging |
Het |
Necab2 |
T |
C |
8: 120,194,334 (GRCm39) |
L270P |
probably damaging |
Het |
Noc3l |
T |
C |
19: 38,804,157 (GRCm39) |
K74E |
probably benign |
Het |
Oas2 |
A |
T |
5: 120,871,537 (GRCm39) |
L702Q |
probably damaging |
Het |
Or1j1 |
A |
T |
2: 36,703,047 (GRCm39) |
I19N |
probably benign |
Het |
Or2n1d |
A |
C |
17: 38,646,731 (GRCm39) |
I228L |
possibly damaging |
Het |
Or4k1 |
A |
G |
14: 50,377,436 (GRCm39) |
I220T |
possibly damaging |
Het |
Or4k6 |
C |
A |
14: 50,475,824 (GRCm39) |
V173L |
possibly damaging |
Het |
Or6c216 |
A |
T |
10: 129,678,814 (GRCm39) |
N32K |
probably damaging |
Het |
Pax6 |
A |
G |
2: 105,525,745 (GRCm39) |
H376R |
possibly damaging |
Het |
Pnkd |
C |
T |
1: 74,390,941 (GRCm39) |
R376C |
probably damaging |
Het |
Pnpla8 |
T |
C |
12: 44,342,696 (GRCm39) |
F484S |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,782,573 (GRCm39) |
H909Q |
probably benign |
Het |
Rasip1 |
CGG |
CGGG |
7: 45,281,820 (GRCm39) |
|
probably null |
Het |
Rbm47 |
A |
T |
5: 66,182,395 (GRCm39) |
Y413N |
probably damaging |
Het |
Rnf123 |
A |
G |
9: 107,929,638 (GRCm39) |
|
probably null |
Het |
Ruvbl1 |
T |
A |
6: 88,461,412 (GRCm39) |
M259K |
possibly damaging |
Het |
Sohlh2 |
A |
G |
3: 55,097,950 (GRCm39) |
H134R |
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,248,330 (GRCm39) |
D447G |
possibly damaging |
Het |
Tank |
C |
T |
2: 61,480,573 (GRCm39) |
P370S |
probably benign |
Het |
Tenm4 |
A |
G |
7: 96,544,131 (GRCm39) |
E2049G |
probably damaging |
Het |
Tnik |
A |
G |
3: 28,648,226 (GRCm39) |
H426R |
possibly damaging |
Het |
Trpm6 |
C |
A |
19: 18,831,564 (GRCm39) |
S1476R |
possibly damaging |
Het |
Trpm7 |
G |
A |
2: 126,682,703 (GRCm39) |
Q389* |
probably null |
Het |
Ttc28 |
G |
A |
5: 111,433,095 (GRCm39) |
R2043Q |
possibly damaging |
Het |
Tymp |
A |
G |
15: 89,260,510 (GRCm39) |
S103P |
probably damaging |
Het |
Usp40 |
C |
T |
1: 87,894,901 (GRCm39) |
|
probably null |
Het |
Vmn1r202 |
T |
A |
13: 22,685,977 (GRCm39) |
N147Y |
probably damaging |
Het |
Vmn2r89 |
T |
C |
14: 51,689,688 (GRCm39) |
S64P |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,727,220 (GRCm39) |
D229E |
probably benign |
Het |
Vps52 |
A |
G |
17: 34,180,153 (GRCm39) |
I354V |
probably benign |
Het |
Zbtb8os |
T |
C |
4: 129,235,557 (GRCm39) |
F90L |
probably damaging |
Het |
Zfp36l1 |
T |
C |
12: 80,157,270 (GRCm39) |
D37G |
possibly damaging |
Het |
Zfp467 |
A |
G |
6: 48,404,751 (GRCm39) |
S109P |
unknown |
Het |
Zzef1 |
T |
A |
11: 72,728,038 (GRCm39) |
C535S |
probably damaging |
Het |
|
Other mutations in Frmpd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00095:Frmpd1
|
APN |
4 |
45,279,456 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL01678:Frmpd1
|
APN |
4 |
45,243,717 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01815:Frmpd1
|
APN |
4 |
45,284,239 (GRCm39) |
missense |
probably benign |
|
IGL02305:Frmpd1
|
APN |
4 |
45,249,209 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02347:Frmpd1
|
APN |
4 |
45,270,023 (GRCm39) |
splice site |
probably null |
|
IGL02586:Frmpd1
|
APN |
4 |
45,285,160 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02704:Frmpd1
|
APN |
4 |
45,285,082 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02942:Frmpd1
|
APN |
4 |
45,285,493 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03353:Frmpd1
|
APN |
4 |
45,261,926 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03355:Frmpd1
|
APN |
4 |
45,279,140 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03401:Frmpd1
|
APN |
4 |
45,284,383 (GRCm39) |
missense |
probably benign |
0.28 |
IGL03047:Frmpd1
|
UTSW |
4 |
45,283,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R0094:Frmpd1
|
UTSW |
4 |
45,284,899 (GRCm39) |
nonsense |
probably null |
|
R0103:Frmpd1
|
UTSW |
4 |
45,229,884 (GRCm39) |
missense |
probably damaging |
0.99 |
R0103:Frmpd1
|
UTSW |
4 |
45,229,884 (GRCm39) |
missense |
probably damaging |
0.99 |
R0109:Frmpd1
|
UTSW |
4 |
45,279,340 (GRCm39) |
missense |
probably benign |
0.03 |
R0109:Frmpd1
|
UTSW |
4 |
45,279,340 (GRCm39) |
missense |
probably benign |
0.03 |
R0375:Frmpd1
|
UTSW |
4 |
45,284,196 (GRCm39) |
missense |
probably benign |
0.00 |
R0508:Frmpd1
|
UTSW |
4 |
45,284,938 (GRCm39) |
missense |
unknown |
|
R0524:Frmpd1
|
UTSW |
4 |
45,283,774 (GRCm39) |
missense |
probably benign |
0.00 |
R0524:Frmpd1
|
UTSW |
4 |
45,256,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R0625:Frmpd1
|
UTSW |
4 |
45,284,055 (GRCm39) |
missense |
probably benign |
|
R0825:Frmpd1
|
UTSW |
4 |
45,285,394 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0926:Frmpd1
|
UTSW |
4 |
45,268,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R0975:Frmpd1
|
UTSW |
4 |
45,279,000 (GRCm39) |
missense |
probably benign |
0.01 |
R1465:Frmpd1
|
UTSW |
4 |
45,273,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R1465:Frmpd1
|
UTSW |
4 |
45,273,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R1573:Frmpd1
|
UTSW |
4 |
45,283,932 (GRCm39) |
missense |
probably benign |
0.01 |
R1938:Frmpd1
|
UTSW |
4 |
45,283,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R2334:Frmpd1
|
UTSW |
4 |
45,285,408 (GRCm39) |
missense |
probably damaging |
0.97 |
R2413:Frmpd1
|
UTSW |
4 |
45,278,969 (GRCm39) |
missense |
probably benign |
0.02 |
R2760:Frmpd1
|
UTSW |
4 |
45,244,667 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3856:Frmpd1
|
UTSW |
4 |
45,283,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R3876:Frmpd1
|
UTSW |
4 |
45,284,093 (GRCm39) |
missense |
probably benign |
0.01 |
R4080:Frmpd1
|
UTSW |
4 |
45,284,382 (GRCm39) |
missense |
probably benign |
|
R4597:Frmpd1
|
UTSW |
4 |
45,274,441 (GRCm39) |
missense |
probably benign |
0.12 |
R4779:Frmpd1
|
UTSW |
4 |
45,229,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R4957:Frmpd1
|
UTSW |
4 |
45,273,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R5000:Frmpd1
|
UTSW |
4 |
45,261,931 (GRCm39) |
splice site |
probably null |
|
R5041:Frmpd1
|
UTSW |
4 |
45,278,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R5228:Frmpd1
|
UTSW |
4 |
45,284,322 (GRCm39) |
missense |
probably damaging |
0.98 |
R5413:Frmpd1
|
UTSW |
4 |
45,249,196 (GRCm39) |
missense |
probably benign |
0.00 |
R5560:Frmpd1
|
UTSW |
4 |
45,243,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R6133:Frmpd1
|
UTSW |
4 |
45,284,915 (GRCm39) |
missense |
probably benign |
0.01 |
R6158:Frmpd1
|
UTSW |
4 |
45,285,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R6329:Frmpd1
|
UTSW |
4 |
45,268,551 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6338:Frmpd1
|
UTSW |
4 |
45,274,489 (GRCm39) |
missense |
probably benign |
0.00 |
R6544:Frmpd1
|
UTSW |
4 |
45,279,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R6728:Frmpd1
|
UTSW |
4 |
45,284,664 (GRCm39) |
missense |
probably benign |
|
R6748:Frmpd1
|
UTSW |
4 |
45,274,397 (GRCm39) |
missense |
probably benign |
0.08 |
R6798:Frmpd1
|
UTSW |
4 |
45,284,850 (GRCm39) |
missense |
probably benign |
0.17 |
R6828:Frmpd1
|
UTSW |
4 |
45,275,383 (GRCm39) |
missense |
probably damaging |
0.99 |
R7002:Frmpd1
|
UTSW |
4 |
45,284,200 (GRCm39) |
missense |
probably benign |
|
R7258:Frmpd1
|
UTSW |
4 |
45,269,974 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7295:Frmpd1
|
UTSW |
4 |
45,285,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R7382:Frmpd1
|
UTSW |
4 |
45,278,880 (GRCm39) |
missense |
probably benign |
0.00 |
R7423:Frmpd1
|
UTSW |
4 |
45,256,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R7451:Frmpd1
|
UTSW |
4 |
45,279,558 (GRCm39) |
missense |
probably benign |
0.11 |
R7492:Frmpd1
|
UTSW |
4 |
45,285,237 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7524:Frmpd1
|
UTSW |
4 |
45,271,181 (GRCm39) |
missense |
probably benign |
0.16 |
R7610:Frmpd1
|
UTSW |
4 |
45,279,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R7719:Frmpd1
|
UTSW |
4 |
45,284,841 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7724:Frmpd1
|
UTSW |
4 |
45,229,888 (GRCm39) |
missense |
probably damaging |
1.00 |
R7891:Frmpd1
|
UTSW |
4 |
45,284,478 (GRCm39) |
missense |
probably benign |
0.06 |
R8010:Frmpd1
|
UTSW |
4 |
45,284,272 (GRCm39) |
missense |
possibly damaging |
0.51 |
R8260:Frmpd1
|
UTSW |
4 |
45,244,638 (GRCm39) |
missense |
probably damaging |
0.99 |
R8528:Frmpd1
|
UTSW |
4 |
45,285,034 (GRCm39) |
missense |
probably benign |
|
R8794:Frmpd1
|
UTSW |
4 |
45,279,632 (GRCm39) |
missense |
probably benign |
0.00 |
R8798:Frmpd1
|
UTSW |
4 |
45,285,424 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8954:Frmpd1
|
UTSW |
4 |
45,284,702 (GRCm39) |
missense |
probably benign |
0.02 |
R9058:Frmpd1
|
UTSW |
4 |
45,283,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R9178:Frmpd1
|
UTSW |
4 |
45,285,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R9281:Frmpd1
|
UTSW |
4 |
45,284,127 (GRCm39) |
missense |
probably benign |
0.11 |
R9408:Frmpd1
|
UTSW |
4 |
45,279,182 (GRCm39) |
missense |
probably benign |
0.00 |
R9532:Frmpd1
|
UTSW |
4 |
45,278,886 (GRCm39) |
missense |
|
|
Z1088:Frmpd1
|
UTSW |
4 |
45,284,080 (GRCm39) |
missense |
possibly damaging |
0.93 |
Z1177:Frmpd1
|
UTSW |
4 |
45,275,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGTCCCACAAGCCCTTG -3'
(R):5'- TCTCAGGCGGTAGGCAAATG -3'
Sequencing Primer
(F):5'- AAGCCCTTGACGTTAGAGCTC -3'
(R):5'- AATGATAGGACTGTCGTCACC -3'
|
Posted On |
2015-10-21 |